Incidental Mutation 'IGL02502:Nfx1'
ID |
296132 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nfx1
|
Ensembl Gene |
ENSMUSG00000028423 |
Gene Name |
nuclear transcription factor, X-box binding 1 |
Synonyms |
Tex42, 3000003M19Rik, 1300017N15Rik, TEG-42 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.602)
|
Stock # |
IGL02502
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
40970906-41025992 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 40976345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030133]
[ENSMUST00000091614]
[ENSMUST00000098143]
|
AlphaFold |
B1AY10 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030133
|
SMART Domains |
Protein: ENSMUSP00000030133 Gene: ENSMUSG00000028423
Domain | Start | End | E-Value | Type |
RING
|
352 |
402 |
3.91e-2 |
SMART |
ZnF_NFX
|
447 |
465 |
1.23e-3 |
SMART |
ZnF_NFX
|
500 |
519 |
6.16e-4 |
SMART |
ZnF_NFX
|
561 |
580 |
2e-3 |
SMART |
ZnF_NFX
|
626 |
649 |
5.45e-5 |
SMART |
ZnF_NFX
|
688 |
707 |
5.25e0 |
SMART |
ZnF_NFX
|
715 |
734 |
2.92e-5 |
SMART |
ZnF_NFX
|
772 |
791 |
5.25e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091614
|
SMART Domains |
Protein: ENSMUSP00000089203 Gene: ENSMUSG00000028423
Domain | Start | End | E-Value | Type |
RING
|
352 |
402 |
3.91e-2 |
SMART |
ZnF_NFX
|
447 |
465 |
1.23e-3 |
SMART |
ZnF_NFX
|
500 |
519 |
6.16e-4 |
SMART |
ZnF_NFX
|
561 |
580 |
2e-3 |
SMART |
ZnF_NFX
|
626 |
649 |
5.45e-5 |
SMART |
ZnF_NFX
|
688 |
707 |
5.25e0 |
SMART |
ZnF_NFX
|
715 |
734 |
2.92e-5 |
SMART |
ZnF_NFX
|
772 |
791 |
5.25e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098143
|
SMART Domains |
Protein: ENSMUSP00000095747 Gene: ENSMUSG00000028423
Domain | Start | End | E-Value | Type |
RING
|
352 |
402 |
3.91e-2 |
SMART |
ZnF_NFX
|
447 |
465 |
1.23e-3 |
SMART |
ZnF_NFX
|
500 |
519 |
6.16e-4 |
SMART |
ZnF_NFX
|
561 |
580 |
2e-3 |
SMART |
ZnF_NFX
|
626 |
649 |
5.45e-5 |
SMART |
ZnF_NFX
|
688 |
707 |
5.25e0 |
SMART |
ZnF_NFX
|
715 |
734 |
2.92e-5 |
SMART |
ZnF_NFX
|
772 |
791 |
5.25e0 |
SMART |
ZnF_NFX
|
826 |
848 |
7.7e-5 |
SMART |
ZnF_NFX
|
857 |
878 |
4.23e-2 |
SMART |
coiled coil region
|
930 |
956 |
N/A |
INTRINSIC |
R3H
|
977 |
1055 |
1.38e-22 |
SMART |
low complexity region
|
1070 |
1088 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
A |
G |
2: 127,917,804 (GRCm39) |
N216S |
probably damaging |
Het |
Akap12 |
A |
G |
10: 4,303,163 (GRCm39) |
D96G |
probably damaging |
Het |
Akna |
A |
G |
4: 63,286,440 (GRCm39) |
V1353A |
probably benign |
Het |
Ambra1 |
A |
G |
2: 91,730,877 (GRCm39) |
D914G |
probably damaging |
Het |
Ap1s3 |
A |
G |
1: 79,601,439 (GRCm39) |
V84A |
possibly damaging |
Het |
Arhgef6 |
T |
C |
X: 56,325,623 (GRCm39) |
E282G |
probably damaging |
Het |
C2cd2 |
G |
T |
16: 97,677,590 (GRCm39) |
S378Y |
possibly damaging |
Het |
Cd101 |
C |
A |
3: 100,919,141 (GRCm39) |
A654S |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,262,209 (GRCm39) |
|
probably benign |
Het |
Csn1s1 |
A |
G |
5: 87,828,784 (GRCm39) |
I283V |
probably benign |
Het |
Cst3 |
A |
G |
2: 148,717,065 (GRCm39) |
|
probably benign |
Het |
Cyp2b9 |
T |
C |
7: 25,887,239 (GRCm39) |
|
probably null |
Het |
Dffb |
A |
G |
4: 154,050,073 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,898,351 (GRCm39) |
Y3711C |
probably damaging |
Het |
Eif4g2 |
T |
C |
7: 110,680,748 (GRCm39) |
S3G |
probably damaging |
Het |
Erbb3 |
C |
T |
10: 128,406,153 (GRCm39) |
R1088H |
probably benign |
Het |
Evpl |
T |
C |
11: 116,113,544 (GRCm39) |
D1382G |
probably damaging |
Het |
Fam168a |
A |
G |
7: 100,473,417 (GRCm39) |
D102G |
probably damaging |
Het |
Fbxo7 |
A |
G |
10: 85,869,161 (GRCm39) |
Y284C |
probably damaging |
Het |
G6pd2 |
T |
C |
5: 61,966,971 (GRCm39) |
Y249H |
probably damaging |
Het |
Gm1123 |
A |
T |
9: 98,891,443 (GRCm39) |
Y335* |
probably null |
Het |
Gm5624 |
C |
T |
14: 44,797,296 (GRCm39) |
|
probably null |
Het |
Hectd1 |
A |
T |
12: 51,844,635 (GRCm39) |
M536K |
possibly damaging |
Het |
Ikbkg |
T |
A |
X: 73,487,433 (GRCm39) |
V334E |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,650,257 (GRCm39) |
L769P |
probably damaging |
Het |
Jmjd1c |
A |
T |
10: 67,061,640 (GRCm39) |
K1331I |
probably benign |
Het |
Krt32 |
T |
C |
11: 99,978,749 (GRCm39) |
K102E |
probably damaging |
Het |
Lrrc34 |
A |
T |
3: 30,699,394 (GRCm39) |
N20K |
probably benign |
Het |
Lrrc47 |
A |
G |
4: 154,100,471 (GRCm39) |
E349G |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,670,579 (GRCm39) |
I415V |
possibly damaging |
Het |
Myh10 |
A |
G |
11: 68,705,198 (GRCm39) |
|
probably null |
Het |
Nbeal2 |
A |
G |
9: 110,462,836 (GRCm39) |
S1376P |
probably damaging |
Het |
Nherf4 |
G |
A |
9: 44,160,948 (GRCm39) |
A206V |
probably benign |
Het |
Notch3 |
A |
T |
17: 32,377,252 (GRCm39) |
C246* |
probably null |
Het |
Nr3c2 |
A |
G |
8: 77,969,143 (GRCm39) |
Y976C |
probably damaging |
Het |
Or51b17 |
A |
G |
7: 103,542,696 (GRCm39) |
V82A |
probably damaging |
Het |
Or52n4b |
T |
A |
7: 108,143,846 (GRCm39) |
M36K |
probably damaging |
Het |
Or5b122 |
A |
G |
19: 13,563,112 (GRCm39) |
Y105C |
probably damaging |
Het |
P2rx7 |
C |
T |
5: 122,819,050 (GRCm39) |
R491C |
possibly damaging |
Het |
Phex |
T |
A |
X: 155,966,823 (GRCm39) |
Y625F |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,462,389 (GRCm39) |
D2055G |
probably damaging |
Het |
Pmm2 |
T |
C |
16: 8,463,227 (GRCm39) |
|
probably benign |
Het |
Prdm15 |
T |
C |
16: 97,640,539 (GRCm39) |
D16G |
probably damaging |
Het |
Prune2 |
T |
A |
19: 17,101,245 (GRCm39) |
C2250S |
probably benign |
Het |
Rasgef1a |
T |
A |
6: 118,057,443 (GRCm39) |
F48Y |
probably benign |
Het |
Rhoq |
T |
C |
17: 87,271,077 (GRCm39) |
V15A |
probably damaging |
Het |
Rnf216 |
G |
A |
5: 143,054,622 (GRCm39) |
A585V |
probably damaging |
Het |
Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
Shprh |
T |
A |
10: 11,070,101 (GRCm39) |
D1492E |
possibly damaging |
Het |
Slc22a26 |
A |
T |
19: 7,768,125 (GRCm39) |
|
probably null |
Het |
Tek |
T |
G |
4: 94,741,818 (GRCm39) |
|
probably null |
Het |
Tenm3 |
T |
C |
8: 48,741,051 (GRCm39) |
E782G |
probably damaging |
Het |
Trmt5 |
A |
G |
12: 73,328,001 (GRCm39) |
C401R |
probably benign |
Het |
Tspear |
T |
G |
10: 77,688,792 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
G |
A |
15: 38,030,933 (GRCm39) |
T414I |
probably benign |
Het |
Vcl |
A |
T |
14: 21,069,453 (GRCm39) |
T710S |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,816,392 (GRCm39) |
D396E |
probably damaging |
Het |
Wtip |
A |
G |
7: 33,818,094 (GRCm39) |
|
probably null |
Het |
Zap70 |
A |
G |
1: 36,817,887 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nfx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01377:Nfx1
|
APN |
4 |
40,977,241 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01998:Nfx1
|
APN |
4 |
41,004,353 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02072:Nfx1
|
APN |
4 |
41,016,119 (GRCm39) |
missense |
probably benign |
|
IGL02170:Nfx1
|
APN |
4 |
41,018,019 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02188:Nfx1
|
APN |
4 |
40,993,827 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02674:Nfx1
|
APN |
4 |
40,999,717 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03007:Nfx1
|
APN |
4 |
40,984,962 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03092:Nfx1
|
APN |
4 |
41,024,851 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03303:Nfx1
|
APN |
4 |
41,004,323 (GRCm39) |
splice site |
probably benign |
|
K7371:Nfx1
|
UTSW |
4 |
40,976,803 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4498001:Nfx1
|
UTSW |
4 |
40,977,244 (GRCm39) |
missense |
probably benign |
|
R0032:Nfx1
|
UTSW |
4 |
41,015,321 (GRCm39) |
missense |
probably benign |
0.00 |
R0032:Nfx1
|
UTSW |
4 |
41,015,321 (GRCm39) |
missense |
probably benign |
0.00 |
R0069:Nfx1
|
UTSW |
4 |
40,986,688 (GRCm39) |
splice site |
probably benign |
|
R1056:Nfx1
|
UTSW |
4 |
41,003,057 (GRCm39) |
missense |
probably damaging |
0.97 |
R1449:Nfx1
|
UTSW |
4 |
40,976,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Nfx1
|
UTSW |
4 |
40,977,004 (GRCm39) |
missense |
probably benign |
|
R1636:Nfx1
|
UTSW |
4 |
41,016,072 (GRCm39) |
splice site |
probably null |
|
R1882:Nfx1
|
UTSW |
4 |
41,009,240 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2089:Nfx1
|
UTSW |
4 |
40,977,004 (GRCm39) |
missense |
probably benign |
|
R2091:Nfx1
|
UTSW |
4 |
40,977,004 (GRCm39) |
missense |
probably benign |
|
R2091:Nfx1
|
UTSW |
4 |
40,977,004 (GRCm39) |
missense |
probably benign |
|
R3792:Nfx1
|
UTSW |
4 |
41,004,357 (GRCm39) |
nonsense |
probably null |
|
R3793:Nfx1
|
UTSW |
4 |
41,004,357 (GRCm39) |
nonsense |
probably null |
|
R4668:Nfx1
|
UTSW |
4 |
40,976,367 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4678:Nfx1
|
UTSW |
4 |
41,012,070 (GRCm39) |
missense |
probably benign |
0.01 |
R4894:Nfx1
|
UTSW |
4 |
40,996,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4972:Nfx1
|
UTSW |
4 |
40,976,375 (GRCm39) |
missense |
probably benign |
0.36 |
R5066:Nfx1
|
UTSW |
4 |
40,991,868 (GRCm39) |
missense |
probably benign |
|
R5389:Nfx1
|
UTSW |
4 |
40,985,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R5429:Nfx1
|
UTSW |
4 |
41,004,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Nfx1
|
UTSW |
4 |
40,984,973 (GRCm39) |
missense |
probably null |
1.00 |
R5644:Nfx1
|
UTSW |
4 |
40,984,973 (GRCm39) |
missense |
probably null |
1.00 |
R5915:Nfx1
|
UTSW |
4 |
40,977,285 (GRCm39) |
missense |
probably benign |
0.02 |
R6286:Nfx1
|
UTSW |
4 |
40,986,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R6393:Nfx1
|
UTSW |
4 |
40,976,851 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7409:Nfx1
|
UTSW |
4 |
41,021,830 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7523:Nfx1
|
UTSW |
4 |
41,016,119 (GRCm39) |
missense |
probably benign |
|
R7916:Nfx1
|
UTSW |
4 |
40,977,142 (GRCm39) |
missense |
probably benign |
0.11 |
R8497:Nfx1
|
UTSW |
4 |
40,976,968 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8799:Nfx1
|
UTSW |
4 |
41,023,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R9154:Nfx1
|
UTSW |
4 |
40,990,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R9364:Nfx1
|
UTSW |
4 |
41,023,756 (GRCm39) |
missense |
probably benign |
0.31 |
R9497:Nfx1
|
UTSW |
4 |
40,994,104 (GRCm39) |
missense |
probably benign |
0.00 |
X0025:Nfx1
|
UTSW |
4 |
40,976,422 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Posted On |
2015-04-16 |